A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5491587



Internal ID268820
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:123376475..123376996hg38UCSC Ensembl
chr8:124388715..124389236hg19UCSC Ensembl
Cytoband8q24.13
Allele length
AssemblyAllele length
hg38522
hg19522
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17018535
Samples
Known GenesATAD2
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5491587
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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